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A common X-linked inborn error of carnitine biosynthesis may be a risk factor...
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Reinforcement of a minor alternative splicing event in MYO7A due to a missens...
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Subtle distinct regulations of late erythroid molecular events by PI3K/AKT-me...
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A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes...
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Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked ...
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Misregulated alternative splicing of BIN1 is associated with T tubule alterat...
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Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient ...
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A quality control program for mutation detection in KIT and PDGFRA in gastroi...
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BRCA2 deep intronic mutation causing activation of a cryptic exon: opening to...
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Patterns and rates of exonic de novo mutations in autism spectrum disorders.
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Exon 45 skipping through U1-snRNA antisense molecules recovers the Dys-nNOS p...
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First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-...
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cDNA sequence of the horse (Equus caballus) LAMA3 gene and characterization o...
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Molecular characterization and chromosomal assignment of equine cartilage der...
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Putative FLJ20436 gene characterisation in goat. Observed ubiquitous expressi...
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CLIP-seq of eIF4AIII reveals transcriptome-wide mapping of the human exon jun...
International audience
